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Showing 1–2 of 2 results
Advanced filters: Author: Sergio Islas-Andrade Clear advanced filters

  • Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation in risk prediction of monogenic variants.

    • Julia K. Goodrich
    • Moriel Singer-Berk
    • Miriam S. Udler
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-15

  • A risk haplotype for type 2 diabetes is identified with four amino acid substitutions in SLC16A11, which is present at ∼50% frequency in Native American samples and ∼10% in east Asian samples, but is rare in European and African samples; SLC16A11 may alter hepatic lipid metabolism, causing an increase in triacylglycerol levels.

    • Amy L. Williams
    • Suzanne B. R. Jacobs
    • Teresa Tusié-Luna
    Research
    Nature
    Volume: 506, P: 97-101